Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1411557416
rs1411557416
PITX3
GCCCAGGCCCTGCAGGGC 0.700 CausalMutation CLINVAR Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. 24555714

2014
dbSNP: rs1411557416
rs1411557416
PITX3
GCCCAGGCCCTGCAGGGC 0.700 CausalMutation CLINVAR Functional analysis of human mutations in homeodomain transcription factor PITX3. 17888164

2007
dbSNP: rs104894175
rs104894175
PITX3
0.700 GeneticVariation UNIPROT Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). 15286169

2004
dbSNP: rs104894175
rs104894175
PITX3
0.700 GeneticVariation UNIPROT A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. 9620774

1998